Varaico: Literature-Extracted Genetic Variants

NOTCH3

1,962 papers

RefSeq Summary

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) est...

Pfam Domains

EGFaa 43–75UCSCEGF-like domain

EGFaa 123–154UCSCEGF-like domain

EGF_CAaa 158–201UCSCCalcium-binding EGF domain

EGFaa 201–232UCSCEGF-like domain

hEGFaa 245–266UCSCHuman growth factor-like EGF

EGF_CAaa 274–314UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 3

HGNC Previous Symbol

CADASIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000435.3

p.L295R

c.884T>G

Surrounding Variants

6 papers

NM_000435.3

p.G296C

c.886G>T

4 papers

NM_000435.3

p.T294M

c.881C>T

1 paper

NM_000435.3

p.T294A

c.880A>G

1 paper

NM_000435.3

p.G297C

c.889G>T

6 papers

NM_000435.3

p.G297S

c.889G>A

1 paper

NM_000435.3

p.N293K

c.879C>G

1 paper

NM_000435.3

p.G297fs

c.889_890fs

1 paper

NM_000435.3

p.H298Y

c.892C>T

1 paper

NM_000435.3

p.H298N

c.892C>A

2 papers

NM_000435.3

p.F292Y

c.875T>A

1 paper

NM_000435.3

p.C291delFs

c.872_873delGC

1 paper

NM_000435.3

p.G297_H298Fs

c.889_894delinsTGTTGCACTGTGAFs